Variant report

Variant	esv3374557
Chromosome Location	chr2:11775726-11778274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11765168..11769666-chr2:11772885..11776464,4	K562	blood:
2	chr2:11778037..11780266-chr2:11789276..11791757,2	MCF-7	breast:
3	chr2:11777572..11780506-chr2:11819343..11822310,2	MCF-7	breast:
4	chr17:57915136..57917305-chr2:11774808..11777131,2	MCF-7	breast:
5	chr2:11773065..11775799-chr2:11783142..11784801,2	MCF-7	breast:
6	chr2:11776352..11778210-chr2:11780262..11782501,3	MCF-7	breast:
7	chr2:11771865..11773485-chr2:11776986..11779049,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NTSR2-6	chr2:11778005-11778439	l_1778_chr2:11778004-11781811_testes

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions
ENSG00000228496	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377054267	chr2:11775766-11775767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142018838	chr2:11775827-11775828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145844682	chr2:11775828-11775829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534829540	chr2:11775838-11775839	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543645451	chr2:11775855-11775856	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567512355	chr2:11775908-11775909	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529420554	chr2:11775928-11775929	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547839448	chr2:11775956-11775957	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192258987	chr2:11776017-11776018	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533342836	chr2:11776061-11776062	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551824477	chr2:11776070-11776071	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148138035	chr2:11776090-11776091	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142014211	chr2:11776092-11776093	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78772769	chr2:11776105-11776106	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549183474	chr2:11776106-11776107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs80066355	chr2:11776109-11776110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577881890	chr2:11776129-11776130	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567493612	chr2:11776152-11776153	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535203802	chr2:11776160-11776161	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553817012	chr2:11776201-11776202	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185281679	chr2:11776215-11776216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536475380	chr2:11776234-11776235	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539416097	chr2:11776236-11776237	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7557851	chr2:11776248-11776249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190576044	chr2:11776251-11776252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117567658	chr2:11776278-11776279	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs13034515	chr2:11776279-11776280	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182304360	chr2:11776297-11776298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184469388	chr2:11776322-11776323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553336021	chr2:11776345-11776346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542303916	chr2:11776360-11776361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533226247	chr2:11776366-11776367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551764354	chr2:11776378-11776379	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73915450	chr2:11776405-11776406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531132566	chr2:11776451-11776452	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200678236	chr2:11776520-11776521	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114179873	chr2:11776537-11776538	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13017814	chr2:11776550-11776551	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535211654	chr2:11776570-11776571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189179917	chr2:11776578-11776579	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114346955	chr2:11776639-11776640	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12987096	chr2:11776675-11776676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs78407881	chr2:11776687-11776688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs576078663	chr2:11776729-11776730	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537369243	chr2:11776759-11776760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555681507	chr2:11776766-11776767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs13013185	chr2:11776789-11776790	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs13013207	chr2:11776824-11776825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs373629210	chr2:11776849-11776850	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559244719	chr2:11776851-11776852	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11724400-11788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:11733600-11784000	Strong transcription	HepG2	liver
3	chr2:11752000-11784400	Strong transcription	Ovary	ovary
4	chr2:11755200-11776800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:11759400-11780400	Weak transcription	Gastric	stomach
6	chr2:11764800-11776200	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr2:11764800-11776800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr2:11765000-11776200	Strong transcription	Brain Angular Gyrus	brain
9	chr2:11765000-11776400	Strong transcription	Brain Anterior Caudate	brain
10	chr2:11766800-11776200	Strong transcription	Brain Substantia Nigra	brain
11	chr2:11767600-11781200	Weak transcription	Right Atrium	heart
12	chr2:11767600-11784600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:11767600-11786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:11767600-11788600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:11767800-11780800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:11767800-11781200	Strong transcription	Fetal Muscle Leg	muscle
17	chr2:11767800-11781600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:11767800-11785000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:11767800-11787000	Weak transcription	Fetal Kidney	kidney
20	chr2:11768000-11778600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:11769200-11779400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:11769600-11776200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:11770000-11775800	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr2:11770000-11776200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:11770200-11776200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:11770400-11776000	Strong transcription	Brain Hippocampus Middle	brain
27	chr2:11770400-11786400	Weak transcription	Fetal Lung	lung
28	chr2:11771800-11779600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:11772000-11776800	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:11772000-11782400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:11772000-11783600	Strong transcription	Fetal Stomach	stomach
32	chr2:11772800-11775800	Strong transcription	Right Ventricle	heart
33	chr2:11772800-11776000	Strong transcription	Pancreas	Pancrea
34	chr2:11773000-11776200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:11773200-11779400	Weak transcription	Liver	Liver
36	chr2:11773200-11780200	Weak transcription	Esophagus	oesophagus
37	chr2:11773200-11780400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:11773400-11790600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:11773800-11775800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:11774000-11775800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:11774000-11775800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:11774000-11775800	Strong transcription	Left Ventricle	heart
43	chr2:11774000-11776000	Strong transcription	Fetal Intestine Small	intestine
44	chr2:11774200-11776200	Strong transcription	Brain Cingulate Gyrus	brain
45	chr2:11774600-11779400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:11775200-11778600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:11775400-11776000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:11775400-11778000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:11775400-11779600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:11775600-11778000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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